Canonical Allele Identifier: CA356738219
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2867615
ClinVar RCV Id: RCV003633135

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746207T>C , CM000666.2:g.41746207T>C GRCh38
NC_000004.11:g.41748224T>C , CM000666.1:g.41748224T>C GRCh37
NC_000004.10:g.41442981T>C NCBI36
NG_008243.1:g.7764A>G , LRG_513:g.7764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.545A>G MANE Select ENSP00000226382.2:p.Asp182Gly
ENST00000226382.3:c.545A>G ENSP00000226382.2:p.Asp182Gly
ENST00000510424.2:n.366A>G
NM_003924.3:c.545A>G , LRG_513t1:c.545A>G NP_003915.2:p.Asp182Gly
NM_003924.4:c.545A>G MANE Select NP_003915.2:p.Asp182Gly